SNP Links for Protein (Select 451770410) - SNP

Select item 14906850261.

rs1490685026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43204005 (GRCh38)
19:43708157 (GRCh37)
Canonical SPDI:: NC_000019.10:43204004:T:C
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43204005T>C, NC_000019.9:g.43708157T>C, NM_002780.5:c.311A>G, NM_002780.4:c.311A>G, XM_017026997.3:c.311A>G, XM_017026997.2:c.311A>G, XM_017026997.1:c.311A>G, NM_213633.3:c.311A>G, NM_213633.2:c.311A>G, NM_001276495.2:c.311A>G, NM_001276495.1:c.311A>G, XM_047439103.1:c.359A>G, XM_047439105.1:c.359A>G, XM_047439104.1:c.359A>G, NP_002771.2:p.Asn104Ser, XP_016882486.1:p.Asn104Ser, NP_998798.1:p.Asn104Ser, NP_001263424.1:p.Asn104Ser, XP_047295059.1:p.Asn120Ser, XP_047295061.1:p.Asn120Ser, XP_047295060.1:p.Asn120Ser

Select item 14839002372.

rs1483900237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43203919 (GRCh38)
19:43708071 (GRCh37)
Canonical SPDI:: NC_000019.10:43203918:C:T
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43203919C>T, NC_000019.9:g.43708071C>T, NM_002780.5:c.397G>A, NM_002780.4:c.397G>A, XM_017026997.3:c.397G>A, XM_017026997.2:c.397G>A, XM_017026997.1:c.397G>A, NM_213633.3:c.397G>A, NM_213633.2:c.397G>A, NM_001276495.2:c.397G>A, NM_001276495.1:c.397G>A, XM_047439103.1:c.445G>A, XM_047439105.1:c.445G>A, XM_047439104.1:c.445G>A, NP_002771.2:p.Gly133Arg, XP_016882486.1:p.Gly133Arg, NP_998798.1:p.Gly133Arg, NP_001263424.1:p.Gly133Arg, XP_047295059.1:p.Gly149Arg, XP_047295061.1:p.Gly149Arg, XP_047295060.1:p.Gly149Arg

Select item 14834443453.

rs1483444345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43203912 (GRCh38)
19:43708064 (GRCh37)
Canonical SPDI:: NC_000019.10:43203911:G:A,NC_000019.10:43203911:G:T
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43203912G>A, NC_000019.10:g.43203912G>T, NC_000019.9:g.43708064G>A, NC_000019.9:g.43708064G>T, NM_002780.5:c.404C>T, NM_002780.5:c.404C>A, NM_002780.4:c.404C>T, NM_002780.4:c.404C>A, XM_017026997.3:c.404C>T, XM_017026997.3:c.404C>A, XM_017026997.2:c.404C>T, XM_017026997.2:c.404C>A, XM_017026997.1:c.404C>T, XM_017026997.1:c.404C>A, NM_213633.3:c.404C>T, NM_213633.3:c.404C>A, NM_213633.2:c.404C>T, NM_213633.2:c.404C>A, NM_001276495.2:c.404C>T, NM_001276495.2:c.404C>A, NM_001276495.1:c.404C>T, NM_001276495.1:c.404C>A, XM_047439103.1:c.452C>T, XM_047439103.1:c.452C>A, XM_047439105.1:c.452C>T, XM_047439105.1:c.452C>A, XM_047439104.1:c.452C>T, XM_047439104.1:c.452C>A, NP_002771.2:p.Thr135Ile, NP_002771.2:p.Thr135Asn, XP_016882486.1:p.Thr135Ile, XP_016882486.1:p.Thr135Asn, NP_998798.1:p.Thr135Ile, NP_998798.1:p.Thr135Asn, NP_001263424.1:p.Thr135Ile, NP_001263424.1:p.Thr135Asn, XP_047295059.1:p.Thr151Ile, XP_047295059.1:p.Thr151Asn, XP_047295061.1:p.Thr151Ile, XP_047295061.1:p.Thr151Asn, XP_047295060.1:p.Thr151Ile, XP_047295060.1:p.Thr151Asn

Select item 14771035164.

rs1477103516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43195266 (GRCh38)
19:43699418 (GRCh37)
Canonical SPDI:: NC_000019.10:43195265:C:A
Gene:: PSG4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43195266C>A, NC_000019.9:g.43699418C>A, NM_002780.5:c.717G>T, NM_002780.4:c.717G>T, XM_017026997.3:c.717G>T, XM_017026997.2:c.717G>T, XM_017026997.1:c.717G>T, NM_001276495.2:c.438G>T, NM_001276495.1:c.438G>T, NM_001316339.2:c.351G>T, NM_001316339.1:c.351G>T, XM_047439103.1:c.765G>T, XM_047439105.1:c.486G>T

Select item 14768703965.

rs1476870396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43203957 (GRCh38)
19:43708109 (GRCh37)
Canonical SPDI:: NC_000019.10:43203956:T:G
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43203957T>G, NC_000019.9:g.43708109T>G, NM_002780.5:c.359A>C, NM_002780.4:c.359A>C, XM_017026997.3:c.359A>C, XM_017026997.2:c.359A>C, XM_017026997.1:c.359A>C, NM_213633.3:c.359A>C, NM_213633.2:c.359A>C, NM_001276495.2:c.359A>C, NM_001276495.1:c.359A>C, XM_047439103.1:c.407A>C, XM_047439105.1:c.407A>C, XM_047439104.1:c.407A>C, NP_002771.2:p.Tyr120Ser, XP_016882486.1:p.Tyr120Ser, NP_998798.1:p.Tyr120Ser, NP_001263424.1:p.Tyr120Ser, XP_047295059.1:p.Tyr136Ser, XP_047295061.1:p.Tyr136Ser, XP_047295060.1:p.Tyr136Ser

Select item 14751860396.

rs1475186039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43194391 (GRCh38)
19:43698543 (GRCh37)
Canonical SPDI:: NC_000019.10:43194390:T:A
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43194391T>A, NC_000019.9:g.43698543T>A, NM_002780.5:c.1192A>T, NM_002780.4:c.1192A>T, XM_017026997.3:c.1192A>T, XM_017026997.2:c.1192A>T, XM_017026997.1:c.1192A>T, NM_213633.3:c.913A>T, NM_213633.2:c.913A>T, NM_001276495.2:c.913A>T, NM_001276495.1:c.913A>T, NM_001316339.2:c.826A>T, NM_001316339.1:c.826A>T, XM_047439103.1:c.1240A>T, XM_047439105.1:c.961A>T, XM_047439104.1:c.961A>T, NP_002771.2:p.Asn398Tyr, XP_016882486.1:p.Asn398Tyr, NP_998798.1:p.Asn305Tyr, NP_001263424.1:p.Asn305Tyr, NP_001303268.1:p.Asn276Tyr, XP_047295059.1:p.Asn414Tyr, XP_047295061.1:p.Asn321Tyr, XP_047295060.1:p.Asn321Tyr

Select item 14750996517.

rs1475099651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:43194534 (GRCh38)
19:43698686 (GRCh37)
Canonical SPDI:: NC_000019.10:43194533:A:T
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43194534A>T, NC_000019.9:g.43698686A>T, NM_002780.5:c.1049T>A, NM_002780.4:c.1049T>A, XM_017026997.3:c.1049T>A, XM_017026997.2:c.1049T>A, XM_017026997.1:c.1049T>A, NM_213633.3:c.770T>A, NM_213633.2:c.770T>A, NM_001276495.2:c.770T>A, NM_001276495.1:c.770T>A, NM_001316339.2:c.683T>A, NM_001316339.1:c.683T>A, XM_047439103.1:c.1097T>A, XM_047439105.1:c.818T>A, XM_047439104.1:c.818T>A, NP_002771.2:p.Leu350His, XP_016882486.1:p.Leu350His, NP_998798.1:p.Leu257His, NP_001263424.1:p.Leu257His, NP_001303268.1:p.Leu228His, XP_047295059.1:p.Leu366His, XP_047295061.1:p.Leu273His, XP_047295060.1:p.Leu273His

Select item 14749465848.

rs1474946584 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43204038 (GRCh38)
19:43708190 (GRCh37)
Canonical SPDI:: NC_000019.10:43204037:GG:G
Gene:: PSG4 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000037/9 (GnomAD_exomes)
-=0.000049/13 (TOPMED)
HGVS:: NC_000019.10:g.43204039del, NC_000019.9:g.43708191del, NM_002780.5:c.278del, NM_002780.4:c.278del, XM_017026997.3:c.278del, XM_017026997.2:c.278del, XM_017026997.1:c.278del, NM_213633.3:c.278del, NM_213633.2:c.278del, NM_001276495.2:c.278del, NM_001276495.1:c.278del, XM_047439103.1:c.326del, XM_047439105.1:c.326del, XM_047439104.1:c.326del, NP_002771.2:p.Pro93fs, XP_016882486.1:p.Pro93fs, NP_998798.1:p.Pro93fs, NP_001263424.1:p.Pro93fs, XP_047295059.1:p.Pro109fs, XP_047295061.1:p.Pro109fs, XP_047295060.1:p.Pro109fs

Select item 14745711249.

rs1474571124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43195102 (GRCh38)
19:43699254 (GRCh37)
Canonical SPDI:: NC_000019.10:43195101:A:G
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43195102A>G, NC_000019.9:g.43699254A>G, NM_002780.5:c.881T>C, NM_002780.4:c.881T>C, XM_017026997.3:c.881T>C, XM_017026997.2:c.881T>C, XM_017026997.1:c.881T>C, NM_001276495.2:c.602T>C, NM_001276495.1:c.602T>C, NM_001316339.2:c.515T>C, NM_001316339.1:c.515T>C, XM_047439103.1:c.929T>C, XM_047439105.1:c.650T>C, NP_002771.2:p.Ile294Thr, XP_016882486.1:p.Ile294Thr, NP_001263424.1:p.Ile201Thr, NP_001303268.1:p.Ile172Thr, XP_047295059.1:p.Ile310Thr, XP_047295061.1:p.Ile217Thr

Select item 147158344510.

rs1471583445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43195135 (GRCh38)
19:43699287 (GRCh37)
Canonical SPDI:: NC_000019.10:43195134:C:T
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43195135C>T, NC_000019.9:g.43699287C>T, NM_002780.5:c.848G>A, NM_002780.4:c.848G>A, XM_017026997.3:c.848G>A, XM_017026997.2:c.848G>A, XM_017026997.1:c.848G>A, NM_001276495.2:c.569G>A, NM_001276495.1:c.569G>A, NM_001316339.2:c.482G>A, NM_001316339.1:c.482G>A, XM_047439103.1:c.896G>A, XM_047439105.1:c.617G>A, NP_002771.2:p.Ser283Asn, XP_016882486.1:p.Ser283Asn, NP_001263424.1:p.Ser190Asn, NP_001303268.1:p.Ser161Asn, XP_047295059.1:p.Ser299Asn, XP_047295061.1:p.Ser206Asn

Select item 147056398111.

rs1470563981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43205506 (GRCh38)
19:43709658 (GRCh37)
Canonical SPDI:: NC_000019.10:43205505:G:A,NC_000019.10:43205505:G:C
Gene:: PSG4 (Varview)
Functional Consequence:: stop_gained,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.43205506G>A, NC_000019.10:g.43205506G>C, NC_000019.9:g.43709658G>A, NC_000019.9:g.43709658G>C, NM_002780.5:c.31C>T, NM_002780.5:c.31C>G, NM_002780.4:c.31C>T, NM_002780.4:c.31C>G, XM_017026997.3:c.31C>T, XM_017026997.3:c.31C>G, XM_017026997.2:c.31C>T, XM_017026997.2:c.31C>G, XM_017026997.1:c.31C>T, XM_017026997.1:c.31C>G, NM_213633.3:c.31C>T, NM_213633.3:c.31C>G, NM_213633.2:c.31C>T, NM_213633.2:c.31C>G, NM_001276495.2:c.31C>T, NM_001276495.2:c.31C>G, NM_001276495.1:c.31C>T, NM_001276495.1:c.31C>G, NM_001316339.2:c.31C>T, NM_001316339.2:c.31C>G, NM_001316339.1:c.31C>T, NM_001316339.1:c.31C>G, XM_047439103.1:c.-107C>T, XM_047439103.1:c.-107C>G, XM_047439105.1:c.-107C>T, XM_047439105.1:c.-107C>G, XM_047439104.1:c.-107C>T, XM_047439104.1:c.-107C>G, NP_002771.2:p.Gln11Ter, NP_002771.2:p.Gln11Glu, XP_016882486.1:p.Gln11Ter, XP_016882486.1:p.Gln11Glu, NP_998798.1:p.Gln11Ter, NP_998798.1:p.Gln11Glu, NP_001263424.1:p.Gln11Ter, NP_001263424.1:p.Gln11Glu, NP_001303268.1:p.Gln11Ter, NP_001303268.1:p.Gln11Glu

Select item 146721761012.

rs1467217610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43194361 (GRCh38)
19:43698513 (GRCh37)
Canonical SPDI:: NC_000019.10:43194360:A:G
Gene:: PSG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43194361A>G, NC_000019.9:g.43698513A>G, NM_002780.5:c.1222T>C, NM_002780.4:c.1222T>C, XM_017026997.3:c.1222T>C, XM_017026997.2:c.1222T>C, XM_017026997.1:c.1222T>C, NM_213633.3:c.943T>C, NM_213633.2:c.943T>C, NM_001276495.2:c.943T>C, NM_001276495.1:c.943T>C, NM_001316339.2:c.856T>C, NM_001316339.1:c.856T>C, XM_047439103.1:c.1270T>C, XM_047439105.1:c.991T>C, XM_047439104.1:c.991T>C, NP_002771.2:p.Ser408Pro, XP_016882486.1:p.Ser408Pro, NP_998798.1:p.Ser315Pro, NP_001263424.1:p.Ser315Pro, NP_001303268.1:p.Ser286Pro, XP_047295059.1:p.Ser424Pro, XP_047295061.1:p.Ser331Pro, XP_047295060.1:p.Ser331Pro

Select item 146355848513.

rs1463558485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43194522 (GRCh38)
19:43698674 (GRCh37)
Canonical SPDI:: NC_000019.10:43194521:C:G
Gene:: PSG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43194522C>G, NC_000019.9:g.43698674C>G, NM_002780.5:c.1061G>C, NM_002780.4:c.1061G>C, XM_017026997.3:c.1061G>C, XM_017026997.2:c.1061G>C, XM_017026997.1:c.1061G>C, NM_213633.3:c.782G>C, NM_213633.2:c.782G>C, NM_001276495.2:c.782G>C, NM_001276495.1:c.782G>C, NM_001316339.2:c.695G>C, NM_001316339.1:c.695G>C, XM_047439103.1:c.1109G>C, XM_047439105.1:c.830G>C, XM_047439104.1:c.830G>C, NP_002771.2:p.Cys354Ser, XP_016882486.1:p.Cys354Ser, NP_998798.1:p.Cys261Ser, NP_001263424.1:p.Cys261Ser, NP_001303268.1:p.Cys232Ser, XP_047295059.1:p.Cys370Ser, XP_047295061.1:p.Cys277Ser, XP_047295060.1:p.Cys277Ser

Select item 146097442514.

rs1460974425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43204097 (GRCh38)
19:43708249 (GRCh37)
Canonical SPDI:: NC_000019.10:43204096:T:C
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43204097T>C, NC_000019.9:g.43708249T>C, NM_002780.5:c.219A>G, NM_002780.4:c.219A>G, XM_017026997.3:c.219A>G, XM_017026997.2:c.219A>G, XM_017026997.1:c.219A>G, NM_213633.3:c.219A>G, NM_213633.2:c.219A>G, NM_001276495.2:c.219A>G, NM_001276495.1:c.219A>G, XM_047439103.1:c.267A>G, XM_047439105.1:c.267A>G, XM_047439104.1:c.267A>G

Select item 146068178115.

rs1460681781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:43205500 (GRCh38)
19:43709652 (GRCh37)
Canonical SPDI:: NC_000019.10:43205499:T:C,NC_000019.10:43205499:T:G
Gene:: PSG4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43205500T>C, NC_000019.10:g.43205500T>G, NC_000019.9:g.43709652T>C, NC_000019.9:g.43709652T>G, NM_002780.5:c.37A>G, NM_002780.5:c.37A>C, NM_002780.4:c.37A>G, NM_002780.4:c.37A>C, XM_017026997.3:c.37A>G, XM_017026997.3:c.37A>C, XM_017026997.2:c.37A>G, XM_017026997.2:c.37A>C, XM_017026997.1:c.37A>G, XM_017026997.1:c.37A>C, NM_213633.3:c.37A>G, NM_213633.3:c.37A>C, NM_213633.2:c.37A>G, NM_213633.2:c.37A>C, NM_001276495.2:c.37A>G, NM_001276495.2:c.37A>C, NM_001276495.1:c.37A>G, NM_001276495.1:c.37A>C, NM_001316339.2:c.37A>G, NM_001316339.2:c.37A>C, NM_001316339.1:c.37A>G, NM_001316339.1:c.37A>C, XM_047439103.1:c.-101A>G, XM_047439103.1:c.-101A>C, XM_047439105.1:c.-101A>G, XM_047439105.1:c.-101A>C, XM_047439104.1:c.-101A>G, XM_047439104.1:c.-101A>C, NP_002771.2:p.Ile13Val, NP_002771.2:p.Ile13Leu, XP_016882486.1:p.Ile13Val, XP_016882486.1:p.Ile13Leu, NP_998798.1:p.Ile13Val, NP_998798.1:p.Ile13Leu, NP_001263424.1:p.Ile13Val, NP_001263424.1:p.Ile13Leu, NP_001303268.1:p.Ile13Val, NP_001303268.1:p.Ile13Leu

Select item 146057049216.

rs1460570492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43204165 (GRCh38)
19:43708317 (GRCh37)
Canonical SPDI:: NC_000019.10:43204164:C:T
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43204165C>T, NC_000019.9:g.43708317C>T, NM_002780.5:c.151G>A, NM_002780.4:c.151G>A, XM_017026997.3:c.151G>A, XM_017026997.2:c.151G>A, XM_017026997.1:c.151G>A, NM_213633.3:c.151G>A, NM_213633.2:c.151G>A, NM_001276495.2:c.151G>A, NM_001276495.1:c.151G>A, XM_047439103.1:c.199G>A, XM_047439105.1:c.199G>A, XM_047439104.1:c.199G>A, NP_002771.2:p.Val51Ile, XP_016882486.1:p.Val51Ile, NP_998798.1:p.Val51Ile, NP_001263424.1:p.Val51Ile, XP_047295059.1:p.Val67Ile, XP_047295061.1:p.Val67Ile, XP_047295060.1:p.Val67Ile

Select item 145906545217.

rs1459065452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43195188 (GRCh38)
19:43699340 (GRCh37)
Canonical SPDI:: NC_000019.10:43195187:C:G
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43195188C>G, NC_000019.9:g.43699340C>G, NM_002780.5:c.795G>C, NM_002780.4:c.795G>C, XM_017026997.3:c.795G>C, XM_017026997.2:c.795G>C, XM_017026997.1:c.795G>C, NM_001276495.2:c.516G>C, NM_001276495.1:c.516G>C, NM_001316339.2:c.429G>C, NM_001316339.1:c.429G>C, XM_047439103.1:c.843G>C, XM_047439105.1:c.564G>C, NP_002771.2:p.Lys265Asn, XP_016882486.1:p.Lys265Asn, NP_001263424.1:p.Lys172Asn, NP_001303268.1:p.Lys143Asn, XP_047295059.1:p.Lys281Asn, XP_047295061.1:p.Lys188Asn

Select item 145869154918.

rs1458691549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43195261 (GRCh38)
19:43699413 (GRCh37)
Canonical SPDI:: NC_000019.10:43195260:T:G
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43195261T>G, NC_000019.9:g.43699413T>G, NM_002780.5:c.722A>C, NM_002780.4:c.722A>C, XM_017026997.3:c.722A>C, XM_017026997.2:c.722A>C, XM_017026997.1:c.722A>C, NM_001276495.2:c.443A>C, NM_001276495.1:c.443A>C, NM_001316339.2:c.356A>C, NM_001316339.1:c.356A>C, XM_047439103.1:c.770A>C, XM_047439105.1:c.491A>C, NP_002771.2:p.Lys241Thr, XP_016882486.1:p.Lys241Thr, NP_001263424.1:p.Lys148Thr, NP_001303268.1:p.Lys119Thr, XP_047295059.1:p.Lys257Thr, XP_047295061.1:p.Lys164Thr

Select item 145787277419.

rs1457872774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43195013 (GRCh38)
19:43699165 (GRCh37)
Canonical SPDI:: NC_000019.10:43195012:C:T
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43195013C>T, NC_000019.9:g.43699165C>T, NM_002780.5:c.970G>A, NM_002780.4:c.970G>A, XM_017026997.3:c.970G>A, XM_017026997.2:c.970G>A, XM_017026997.1:c.970G>A, NM_001276495.2:c.691G>A, NM_001276495.1:c.691G>A, NM_001316339.2:c.604G>A, NM_001316339.1:c.604G>A, XM_047439103.1:c.1018G>A, XM_047439105.1:c.739G>A, NP_002771.2:p.Val324Ile, XP_016882486.1:p.Val324Ile, NP_001263424.1:p.Val231Ile, NP_001303268.1:p.Val202Ile, XP_047295059.1:p.Val340Ile, XP_047295061.1:p.Val247Ile

Select item 145361955420.

rs1453619554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:43195048 (GRCh38)
19:43699200 (GRCh37)
Canonical SPDI:: NC_000019.10:43195047:A:C
Gene:: PSG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43195048A>C, NC_000019.9:g.43699200A>C, NM_002780.5:c.935T>G, NM_002780.4:c.935T>G, XM_017026997.3:c.935T>G, XM_017026997.2:c.935T>G, XM_017026997.1:c.935T>G, NM_001276495.2:c.656T>G, NM_001276495.1:c.656T>G, NM_001316339.2:c.569T>G, NM_001316339.1:c.569T>G, XM_047439103.1:c.983T>G, XM_047439105.1:c.704T>G, NP_002771.2:p.Ile312Arg, XP_016882486.1:p.Ile312Arg, NP_001263424.1:p.Ile219Arg, NP_001303268.1:p.Ile190Arg, XP_047295059.1:p.Ile328Arg, XP_047295061.1:p.Ile235Arg

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Result Filters

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Items: 1 to 20 of 518

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